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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
MeSH Review

Osteopetrosis

 
 
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Disease relevance of Osteopetrosis

 

Psychiatry related information on Osteopetrosis

 

High impact information on Osteopetrosis

  • We also identified CLCN7 mutations in a patient with human infantile malignant osteopetrosis [8].
  • Here we report hypomorphic mutations in the gene IKBKG in 12 males with EDA-ID from 8 kindreds, and 2 patients with a related and hitherto unrecognized syndrome of EDA-ID with osteopetrosis and lymphoedema (OL-EDA-ID) [9].
  • Our data indicate that mutations in TCIRG1 are a frequent cause of autosomal recessive osteopetrosis in humans [10].
  • Moreover, a transgene expressing Fra-1 rescues the osteopetrosis of c-Fos-mutant mice in vivo [11].
  • Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification [12].
 

Chemical compound and disease context of Osteopetrosis

 

Biological context of Osteopetrosis

 

Anatomical context of Osteopetrosis

 

Gene context of Osteopetrosis

 

Analytical, diagnostic and therapeutic context of Osteopetrosis

References

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